This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
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Protein Aliases: CD158 antigen-like family member A; CD158a; Killer cell immunoglobulin-like receptor 2DL1; killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1; killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1; killer Ig receptor; killer inhibitory receptor 2-2-1; MHC class I NK cell receptor; natural killer cell receptor; Natural killer-associated transcript 1; NKAT-1; p58 killer cell inhibitory receptor KIR-K64; p58 natural killer cell receptor clones CL-42/47.11; p58 NK cell inhibitory receptor NKR-K6; p58 NK receptor CL-42/47.11; p58.1 MHC class-I-specific NK receptor
Gene Aliases: CD158A; KIR-K64; KIR221; KIR2DL1; KIR2DS1; NKAT; NKAT-1; NKAT1; p58.1
UniProt ID: (Human) P43626
Entrez Gene ID: (Human) 3802